Canonical Allele Identifier: CA357378569

Gene: BMP2K

Linked Data

• gnomAD v4: 4-78865639-C-A
• MyVariant Identifiers: chr4:g.79786793C>A (hg19) ; chr4:g.78865639C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865639C>A , CM000666.2:g.78865639C>A	GRCh38
NC_000004.11:g.79786793C>A , CM000666.1:g.79786793C>A	GRCh37
NC_000004.10:g.80005817C>A	NCBI36
NG_047162.1:g.94262C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1150C>A MANE Select	ENSP00000424668.2:p.Pro384Thr
ENST00000335016.9:c.1150C>A	ENSP00000334836.5:p.Pro384Thr
ENST00000389010.7:c.*126C>A	ENSP00000373662.3:n.*126C>A
ENST00000502613.1:c.227C>A
ENST00000502871.5:c.1150C>A	ENSP00000421768.1:p.Pro384Thr
ENST00000505725.1:n.432C>A
ENST00000628286.1:c.*126C>A	ENSP00000487317.1:n.*126C>A
NM_017593.3:c.1150C>A	NP_060063.2:p.Pro384Thr
NM_198892.1:c.1150C>A	NP_942595.1:p.Pro384Thr
XM_005263117.1:c.1150C>A	XP_005263174.1:p.Pro384Thr
XM_011532101.1:c.910C>A	XP_011530403.1:p.Pro304Thr
XM_011532102.1:c.1150C>A	XP_011530404.1:p.Pro384Thr
XM_017008381.1:c.910C>A	XP_016863870.1:p.Pro304Thr
XM_017008382.1:c.262C>A	XP_016863871.1:p.Pro88Thr
NM_017593.4:c.1150C>A	NP_060063.2:p.Pro384Thr
NM_017593.5:c.1150C>A	NP_060063.2:p.Pro384Thr
NM_198892.2:c.1150C>A MANE Select	NP_942595.1:p.Pro384Thr